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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-102402136-CCCGAGACA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=102402136&ref=CCCGAGACA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 102402136,
"ref": "CCCGAGACA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001077494.3",
"consequences": [
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "NM_001322934.2",
"protein_id": "NP_001309863.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000661543.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322934.2"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000661543.1",
"protein_id": "ENSP00000499294.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001322934.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000661543.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000369966.8",
"protein_id": "ENSP00000358983.3",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369966.8"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000189444.11",
"protein_id": "ENSP00000189444.6",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000189444.11"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000428099.6",
"protein_id": "ENSP00000410256.1",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428099.6"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2637_2644delCCGAGACA",
"hgvs_p": "p.Arg880fs",
"transcript": "ENST00000901571.1",
"protein_id": "ENSP00000571630.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 926,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901571.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "NM_001077494.3",
"protein_id": "NP_001070962.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077494.3"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000901568.1",
"protein_id": "ENSP00000571627.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901568.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000901574.1",
"protein_id": "ENSP00000571633.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 900,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901574.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "NM_001261403.3",
"protein_id": "NP_001248332.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261403.3"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "NM_001288724.1",
"protein_id": "NP_001275653.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288724.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "NM_002502.6",
"protein_id": "NP_002493.3",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002502.6"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000652277.1",
"protein_id": "ENSP00000498308.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652277.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2556_2563delCCGAGACA",
"hgvs_p": "p.Arg853fs",
"transcript": "ENST00000901570.1",
"protein_id": "ENSP00000571629.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 899,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901570.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2523_2530delCCGAGACA",
"hgvs_p": "p.Arg842fs",
"transcript": "ENST00000901575.1",
"protein_id": "ENSP00000571634.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 888,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901575.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2493_2500delCCGAGACA",
"hgvs_p": "p.Arg832fs",
"transcript": "ENST00000941742.1",
"protein_id": "ENSP00000611801.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 878,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941742.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2493_2500delCCGAGACA",
"hgvs_p": "p.Arg832fs",
"transcript": "ENST00000941744.1",
"protein_id": "ENSP00000611803.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 878,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941744.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2493_2500delCCGAGACA",
"hgvs_p": "p.Arg832fs",
"transcript": "ENST00000941745.1",
"protein_id": "ENSP00000611804.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 878,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941745.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2457_2464delCCGAGACA",
"hgvs_p": "p.Arg820fs",
"transcript": "ENST00000901576.1",
"protein_id": "ENSP00000571635.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 866,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901576.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2457_2464delCCGAGACA",
"hgvs_p": "p.Arg820fs",
"transcript": "ENST00000941743.1",
"protein_id": "ENSP00000611802.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 866,
"cds_start": 2457,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941743.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2430_2437delCCGAGACA",
"hgvs_p": "p.Arg811fs",
"transcript": "NM_001322935.1",
"protein_id": "NP_001309864.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 858,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322935.1"
},
{
"aa_ref": "TRDK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFKB2",
"gene_hgnc_id": 7795,
"hgvs_c": "c.2430_2437delCCGAGACA",
"hgvs_p": "p.Arg811fs",
"transcript": "ENST00000901572.1",
"protein_id": "ENSP00000571631.1",
"transcript_support_level": null,
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],
"gene_symbol": "NFKB2",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"splice_score_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 6.305,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
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"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001077494.3",
"gene_symbol": "NFKB2",
"hgnc_id": 7795,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": " 10, common variable,Immunodeficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Immunodeficiency, common variable, 10",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}